PSEN1 c.1292C>T ;(p.A431V)

Variant ID: 14-73685885-C-T

NM_000021.3(PSEN1):c.1292C>T;(p.A431V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.

International Journal Of Molecular Sciences
Bagaria, Jaya J; Bagyinszky, Eva E; An, Seong Soo A SSA
Publication Date: 2022-09-19

Variant appearance in text: PSEN1: Ala431Val
PubMed Link: 36142879
Variant Present in the following documents:
  • Main text
  • ijms-23-10970.pdf
View BVdb publication page



Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.

The American Journal Of Pathology
Kalaria, Rajesh N RN; Sepulveda-Falla, Diego D
Publication Date: 2021-11

Variant appearance in text: PSEN1: Ala431Val
PubMed Link: 34331941
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Ala431Val
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
  • ijms-20-04757.pdf
View BVdb publication page



Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH
Publication Date: 2019-07-12

Variant appearance in text: PSEN1: A431V
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Clinical Interventions In Aging
Giau, Vo Van VV; Pyun, Jung-Min JM; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S
Publication Date: 2018

Variant appearance in text: PSEN1: 1292C>T
PubMed Link: 30104866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Frontiers In Neuroscience
Ibanez, Laura L; Dube, Umber U; Davis, Albert A AA; Fernandez, Maria V MV; Budde, John J; Cooper, Breanna B; Diez-Fairen, Monica M; Ortega-Cubero, Sara S; Pastor, Pau P; Perlmutter, Joel S JS; Cruchaga, Carlos C; Benitez, Bruno A BA
Publication Date: 2018

Variant appearance in text: PSEN1: A431V
PubMed Link: 29692703
Variant Present in the following documents:
  • Main text
  • fnins-12-00230.pdf
View BVdb publication page



Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2016

Variant appearance in text: PSEN1: Ala431Val
PubMed Link: 27799753
Variant Present in the following documents:
  • Main text
  • cia-11-1467.pdf
View BVdb publication page



Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17.

Journal Of Human Genetics
Kasuga, Kensaku K; Kikuchi, Masataka M; Tokutake, Takayoshi T; Nakaya, Akihiro A; Tezuka, Toshiyuki T; Tsukie, Tamao T; Hara, Norikazu N; Miyashita, Akinori A; Kuwano, Ryozo R; Ikeuchi, Takeshi T
Publication Date: 2015-05

Variant appearance in text: PSEN1: 1292C>T; Ala431Val
PubMed Link: 25694106
Variant Present in the following documents:
  • jhg201515x1.pdf
View BVdb publication page



The genetics of Alzheimer's disease.

Clinical Interventions In Aging
Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S
Publication Date: 2014

Variant appearance in text: PSEN1: Ala431Val
PubMed Link: 24729694
Variant Present in the following documents:
  • Main text
  • cia-9-535.pdf
View BVdb publication page